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Q8NBL1

- PGLT1_HUMAN

UniProt

Q8NBL1 - PGLT1_HUMAN

Protein

Protein O-glucosyltransferase 1

Gene

POGLUT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding.3 Publications

    Catalytic activityi

    Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate.

    Kineticsi

    1. KM=72 µM for UDP-Glc1 Publication

    Vmax=7.6 pmol/min/µg enzyme1 Publication

    Pathwayi

    GO - Molecular functioni

    1. glucosyltransferase activity Source: MGI
    2. protein xylosyltransferase activity Source: UniProtKB-EC
    3. UDP-glucosyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. cardiovascular system development Source: Ensembl
    2. Notch signaling pathway Source: Reactome
    3. protein O-linked glycosylation Source: MGI
    4. regulation of Notch signaling pathway Source: Ensembl

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_118722. Pre-NOTCH Processing in the Endoplasmic Reticulum.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT90. Glycosyltransferase Family 90.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein O-glucosyltransferase 1 (EC:2.4.1.-)
    Alternative name(s):
    CAP10-like 46 kDa protein
    Short name:
    hCLP46
    KTEL motif-containing protein 1
    Myelodysplastic syndromes relative protein
    O-glucosyltransferase Rumi homolog
    Short name:
    hRumi
    Protein O-xylosyltransferase (EC:2.4.2.26)
    Gene namesi
    Name:POGLUT1
    Synonyms:C3orf9, CLP46, KTELC1, MDSRP
    ORF Names:MDS010, UNQ490/PRO1006
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:22954. POGLUT1.

    Subcellular locationi

    Endoplasmic reticulum lumen 2 Publications

    GO - Cellular componenti

    1. endoplasmic reticulum lumen Source: UniProtKB
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    Dowling-Degos disease 4 (DDD4) [MIM:615696]: A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi169 – 1691G → E: Loss of O-glucosyltransferase activity. 1 Publication

    Organism-specific databases

    MIMi615696. phenotype.
    Orphaneti79145. Dowling-Degos disease.
    PharmGKBiPA162393771.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 23231 PublicationAdd
    BLAST
    Chaini24 – 392369Protein O-glucosyltransferase 1PRO_0000246685Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi40 – 401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi53 – 531N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi204 – 2041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi373 – 3731N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8NBL1.
    PaxDbiQ8NBL1.
    PRIDEiQ8NBL1.

    PTM databases

    PhosphoSiteiQ8NBL1.

    Expressioni

    Tissue specificityi

    Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level).2 Publications

    Gene expression databases

    ArrayExpressiQ8NBL1.
    BgeeiQ8NBL1.
    CleanExiHS_KTELC1.
    GenevestigatoriQ8NBL1.

    Organism-specific databases

    HPAiHPA037855.

    Interactioni

    Protein-protein interaction databases

    BioGridi121300. 3 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NBL1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi389 – 3924Endoplasmic reticulum retention signalBy similarity

    Sequence similaritiesi

    Belongs to the glycosyltransferase 90 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG248922.
    HOVERGENiHBG069044.
    InParanoidiQ8NBL1.
    KOiK13667.
    OMAiWEEREPY.
    OrthoDBiEOG7R831J.
    PhylomeDBiQ8NBL1.
    TreeFamiTF323280.

    Family and domain databases

    InterProiIPR006598. LipoPS_modifying.
    [Graphical view]
    PfamiPF05686. Glyco_transf_90. 1 hit.
    [Graphical view]
    SMARTiSM00672. CAP10. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q8NBL1-1 [UniParc]FASTAAdd to Basket

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    MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS    50
    SQNCSCYHGV IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN 100
    DCMFPSRCSG VEHFILEVIG RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF 150
    SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG LGRWDLFRED LVRSAAQWPW 200
    KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ AWKSMKDTLG 250
    KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF 300
    FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL 350
    QMDDITCYWE NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL 392
    Length:392
    Mass (Da):46,189
    Last modified:October 1, 2002 - v1
    Checksum:i25B0370757A6B224
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti287 – 2871G → D in BAD96657. 1 PublicationCurated
    Sequence conflicti371 – 3711S → P in BAD96657. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti75 – 751K → R.1 Publication
    Corresponds to variant rs11556605 [ dbSNP | Ensembl ].
    VAR_027041
    Natural varianti229 – 2291P → T.1 Publication
    Corresponds to variant rs17852785 [ dbSNP | Ensembl ].
    VAR_027042

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY298903 mRNA. Translation: AAP56253.1.
    AY358581 mRNA. Translation: AAQ88944.1.
    AK075444 mRNA. Translation: BAC11625.1.
    AK222937 mRNA. Translation: BAD96657.1.
    AK315367 mRNA. Translation: BAG37760.1.
    AC074271 Genomic DNA. No translation available.
    AC073352 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79570.1.
    BC030614 mRNA. Translation: AAH30614.1.
    BC048810 mRNA. Translation: AAH48810.1.
    CCDSiCCDS2988.1.
    RefSeqiNP_689518.1. NM_152305.2.
    UniGeneiHs.231750.

    Genome annotation databases

    EnsembliENST00000295588; ENSP00000295588; ENSG00000163389.
    GeneIDi56983.
    KEGGihsa:56983.
    UCSCiuc003ecm.3. human.

    Polymorphism databases

    DMDMi74730148.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY298903 mRNA. Translation: AAP56253.1 .
    AY358581 mRNA. Translation: AAQ88944.1 .
    AK075444 mRNA. Translation: BAC11625.1 .
    AK222937 mRNA. Translation: BAD96657.1 .
    AK315367 mRNA. Translation: BAG37760.1 .
    AC074271 Genomic DNA. No translation available.
    AC073352 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79570.1 .
    BC030614 mRNA. Translation: AAH30614.1 .
    BC048810 mRNA. Translation: AAH48810.1 .
    CCDSi CCDS2988.1.
    RefSeqi NP_689518.1. NM_152305.2.
    UniGenei Hs.231750.

    3D structure databases

    ProteinModelPortali Q8NBL1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121300. 3 interactions.

    Protein family/group databases

    CAZyi GT90. Glycosyltransferase Family 90.

    PTM databases

    PhosphoSitei Q8NBL1.

    Polymorphism databases

    DMDMi 74730148.

    Proteomic databases

    MaxQBi Q8NBL1.
    PaxDbi Q8NBL1.
    PRIDEi Q8NBL1.

    Protocols and materials databases

    DNASUi 56983.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295588 ; ENSP00000295588 ; ENSG00000163389 .
    GeneIDi 56983.
    KEGGi hsa:56983.
    UCSCi uc003ecm.3. human.

    Organism-specific databases

    CTDi 56983.
    GeneCardsi GC03P119188.
    HGNCi HGNC:22954. POGLUT1.
    HPAi HPA037855.
    MIMi 615618. gene.
    615696. phenotype.
    neXtProti NX_Q8NBL1.
    Orphaneti 79145. Dowling-Degos disease.
    PharmGKBi PA162393771.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG248922.
    HOVERGENi HBG069044.
    InParanoidi Q8NBL1.
    KOi K13667.
    OMAi WEEREPY.
    OrthoDBi EOG7R831J.
    PhylomeDBi Q8NBL1.
    TreeFami TF323280.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_118722. Pre-NOTCH Processing in the Endoplasmic Reticulum.

    Miscellaneous databases

    GenomeRNAii 56983.
    NextBioi 62657.
    PROi Q8NBL1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NBL1.
    Bgeei Q8NBL1.
    CleanExi HS_KTELC1.
    Genevestigatori Q8NBL1.

    Family and domain databases

    InterProi IPR006598. LipoPS_modifying.
    [Graphical view ]
    Pfami PF05686. Glyco_transf_90. 1 hit.
    [Graphical view ]
    SMARTi SM00672. CAP10. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34+ stem/progenitor cells."
      Teng Y., Liu Q., Ma J., Liu F., Han Z., Wang Y., Wang W.
      Gene 371:7-15(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
      Tissue: Hematopoietic stem cell.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    5. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-75 AND THR-229.
      Tissue: Fetal brain and Hypothalamus.
    9. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 24-38.
    10. "Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi."
      Fernandez-Valdivia R., Takeuchi H., Samarghandi A., Lopez M., Leonardi J., Haltiwanger R.S., Jafar-Nejad H.
      Development 138:1925-1934(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF GLY-169.
    11. "Universal phosphatase-coupled glycosyltransferase assay."
      Wu Z.L., Ethen C.M., Prather B., Machacek M., Jiang W.
      Glycobiology 21:727-733(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.
    12. Cited for: FUNCTION.
    13. Cited for: INVOLVEMENT IN DDD4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiPGLT1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NBL1
    Secondary accession number(s): B2RD13, Q53GJ4, Q8N2T1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 25, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 109 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3